Incidental Mutation 'IGL00927:Zbtb7c'
ID |
29411 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb7c
|
Ensembl Gene |
ENSMUSG00000044646 |
Gene Name |
zinc finger and BTB domain containing 7C |
Synonyms |
Kr-pok, Zbtb36, B230208J24Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.330)
|
Stock # |
IGL00927
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
75953249-76281635 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76278921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 460
(S460P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058997]
[ENSMUST00000167921]
|
AlphaFold |
Q8VCZ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058997
AA Change: S460P
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057856 Gene: ENSMUSG00000044646 AA Change: S460P
Domain | Start | End | E-Value | Type |
BTB
|
34 |
131 |
1.13e-28 |
SMART |
coiled coil region
|
144 |
167 |
N/A |
INTRINSIC |
low complexity region
|
290 |
316 |
N/A |
INTRINSIC |
ZnF_C2H2
|
364 |
386 |
1.89e-1 |
SMART |
ZnF_C2H2
|
392 |
414 |
4.87e-4 |
SMART |
ZnF_C2H2
|
420 |
442 |
1.92e-2 |
SMART |
ZnF_C2H2
|
448 |
468 |
1.55e1 |
SMART |
low complexity region
|
564 |
584 |
N/A |
INTRINSIC |
low complexity region
|
590 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167921
AA Change: S460P
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126808 Gene: ENSMUSG00000044646 AA Change: S460P
Domain | Start | End | E-Value | Type |
BTB
|
34 |
131 |
1.13e-28 |
SMART |
coiled coil region
|
144 |
167 |
N/A |
INTRINSIC |
low complexity region
|
290 |
316 |
N/A |
INTRINSIC |
ZnF_C2H2
|
364 |
386 |
1.89e-1 |
SMART |
ZnF_C2H2
|
392 |
414 |
4.87e-4 |
SMART |
ZnF_C2H2
|
420 |
442 |
1.92e-2 |
SMART |
ZnF_C2H2
|
448 |
468 |
1.55e1 |
SMART |
low complexity region
|
564 |
584 |
N/A |
INTRINSIC |
low complexity region
|
590 |
608 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation exhibit decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Zbtb7c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02314:Zbtb7c
|
APN |
18 |
76,278,937 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02397:Zbtb7c
|
APN |
18 |
76,270,047 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0112:Zbtb7c
|
UTSW |
18 |
76,269,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Zbtb7c
|
UTSW |
18 |
76,270,464 (GRCm39) |
missense |
probably benign |
0.01 |
R1485:Zbtb7c
|
UTSW |
18 |
76,270,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Zbtb7c
|
UTSW |
18 |
76,270,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Zbtb7c
|
UTSW |
18 |
76,269,977 (GRCm39) |
missense |
probably benign |
0.16 |
R3737:Zbtb7c
|
UTSW |
18 |
76,270,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Zbtb7c
|
UTSW |
18 |
76,269,918 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4737:Zbtb7c
|
UTSW |
18 |
76,279,225 (GRCm39) |
missense |
probably benign |
0.15 |
R5080:Zbtb7c
|
UTSW |
18 |
76,270,413 (GRCm39) |
missense |
probably benign |
0.06 |
R6160:Zbtb7c
|
UTSW |
18 |
76,278,904 (GRCm39) |
missense |
probably benign |
0.05 |
R6262:Zbtb7c
|
UTSW |
18 |
76,270,413 (GRCm39) |
missense |
probably benign |
|
R7193:Zbtb7c
|
UTSW |
18 |
76,271,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Zbtb7c
|
UTSW |
18 |
76,270,433 (GRCm39) |
missense |
probably benign |
0.02 |
R7849:Zbtb7c
|
UTSW |
18 |
76,278,772 (GRCm39) |
missense |
probably benign |
0.40 |
R8047:Zbtb7c
|
UTSW |
18 |
76,270,221 (GRCm39) |
missense |
probably damaging |
0.98 |
R8157:Zbtb7c
|
UTSW |
18 |
76,270,398 (GRCm39) |
missense |
probably benign |
0.05 |
R8809:Zbtb7c
|
UTSW |
18 |
76,270,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Zbtb7c
|
UTSW |
18 |
76,270,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R8982:Zbtb7c
|
UTSW |
18 |
76,279,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |